Associated Papers
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › FBN1
Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.
Nachmanson D et al.
Bmc Medical Genomics, 2020
33208147 (PubMed )
Supplement: 12920_2020_820_MOESM2_ESM.xlsx › S8_DCIS_Mutations
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